view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPHKAP_chr2_227974955_228186687 | 227987469 | TGTATAAC others(8): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0053 a0001c0001t0002g0085 a0001c0001t0002g0114 others(2): Show |
5 | 320 | 0.0156 | -15 | c.495 others(34): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 11/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228080707 | CAAAATAA others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(51): Show |
a0001a0003a0004others(5): Show | a0001c0001a0003c0005a0003c0024others(6): Show | a0001c0001t0002a0003c0005t0001a0003c0005t0007others(7): Show | a0001c0001t0002g0005 a0001c0001t0002g0244 a0001c0001t0002g0254 others(51): Show |
54 | 70 | 0.7714 | -15 | c.246 others(34): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228080773 | AAAATAAA others(8): Show |
A | intron_variant | MODIFIER | HG01243.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 a0001c0001t0002g0262 |
2 | 320 | 0.0063 | -15 | c.246 others(34): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47277313 | TTGTTATG others(8): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG02015.hp1 HG02083.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0011t0002others(2): Show | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(12): Show |
15 | 42 | 0.3571 | -15 | c.34- others(30): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47368343 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 19 | 0.0526 | -15 | c.526 others(34): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47375233 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03490.hp2 HG03704.hp2 HG04204.hp1 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0002a0005c0006t0002 | a0001c0001t0002g0016 a0005c0006t0002g0014 a0005c0006t0002g0015 |
3 | 84 | 0.0357 | -15 | c.526 others(34): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47393673 | TTTTCCTT others(8): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(55): Show |
58 | 100 | 0.5800 | -15 | c.526 others(32): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47458323 | GTATTTTA others(8): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG01192.hp2 HG02071.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0205 a0001c0001t0002g0054 a0001c0001t0002g0144 others(9): Show |
12 | 66 | 0.1818 | -15 | c.109 others(36): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47565980 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03704.hp2 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0014 | 1 | 214 | 0.0047 | -15 | c.109 others(36): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47640841 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 3 | 0.3333 | -15 | c.154 others(36): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47658544 | CTGTTGTT others(8): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 a0001c0001t0002g0163 |
2 | 43 | 0.0465 | -15 | c.154 others(36): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88445518 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 24 | 0.0417 | -15 | c.53- others(30): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN4_chrX_63342228_63356332 | 63356012 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 133 | 0.0075 | -15 | c.-52 others(26): Show |
SPIN4 | ENSG00000186767.7 | transcript | ENST00000374884.3 | protein_coding | 4681 | chrX | TogoVar | |||||||
SPINDOC_chr11_63808456_63832716 | 63822370 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02258.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0001g0032 a0001c0001t0005g0093 a0001c0001t0009g0032 others(2): Show |
5 | 390 | 0.0128 | -15 | c.934 others(32): Show |
SPINDOC | ENSG00000168005.9 | transcript | ENST00000294244.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPINK7_chr5_148307423_148320919 | 148319310 | CTTGATGG others(8): Show |
C | downstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 446 | 0.0022 | -15 | c.*36 others(26): Show |
SPINK7 | ENSG00000145879.11 | transcript | ENST00000274565.5 | protein_coding | 3392 | chr5 | TogoVar | |||||||
SPINT3_chr20_45507461_45520622 | 45508627 | TTTCCCTT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG02145.hp1 others(9): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0003a0003c0003t0008 | a0003c0003t0002g0030 a0003c0003t0003g0008 a0003c0003t0003g0011 others(1): Show |
12 | 155 | 0.0774 | -15 | c.*40 others(26): Show |
SPINT3 | ENSG00000101446.8 | transcript | ENST00000217428.7 | protein_coding | 3833 | chr20 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12476555 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0172 a0001c0001t0001g0207 others(5): Show |
8 | 305 | 0.0262 | -15 | c.140 others(34): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 10/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12553780 | ACTAGAAA others(8): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0011 | 1 | 326 | 0.0031 | -15 | c.373 others(32): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPNS2_chr17_4493881_4544035 | 4495197 | TTTTTTTT others(8): Show |
T | upstream_gene_variant | MODIFIER | HG03239.hp2 HG03710.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0016 | a0001c0001t0001g0013 a0001c0001t0005g0004 a0001c0001t0016g0314 |
3 | 392 | 0.0077 | -15 | c.-38 others(26): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 3683 | chr17 | TogoVar | |||||||
SPNS2_chr17_4493881_4544035 | 4535076 | TAAGGCTG others(8): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp2 others(126): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0087 others(116): Show |
129 | 402 | 0.3209 | -15 | c.134 others(32): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4450305 | CTCTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0044 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0035 a0001c0001t0002g0344 a0001c0003t0002g0127 others(1): Show |
4 | 360 | 0.0111 | -15 | c.923 others(30): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 7/11 | chr17 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 136982403 | TTATTGTG others(8): Show |
T | intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0103 | 1 | 152 | 0.0066 | -15 | c.991 others(32): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 9/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137292426 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02135.hp1 HG02451.hp2 HG02559.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0077 a0001c0001t0002g0116 a0001c0001t0002g0119 others(14): Show |
17 | 20 | 0.8500 | -15 | c.187 others(34): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137293089 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0102 | 1 | 8 | 0.1250 | -15 | c.187 others(34): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166740516 | TATTATTA others(8): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0013 a0002c0003t0006g0040 |
2 | 142 | 0.0141 | -15 | c.994 others(32): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 9/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167199694 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02257.hp1 HG02683.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0014a0001c0002t0001others(1): Show | a0001c0001t0001g0066 a0001c0001t0001g0144 a0001c0001t0014g0062 others(2): Show |
5 | 48 | 0.1042 | -15 | c.189 others(34): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14090824 | GCCCCCCC others(8): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02965.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0034 a0001c0002t0001g0014 a0001c0003t0001g0115 |
3 | 121 | 0.0248 | -15 | c.676 others(34): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14190996 | AATCCCAT others(8): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0223 | 1 | 222 | 0.0045 | -15 | c.826 others(34): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON2_chr4_1161932_1177583 | 1162993 | TTTTTTTT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01109.hp1 HG01261.hp1 others(26): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0005 a0002c0003t0002g0007 a0002c0003t0002g0027 others(3): Show |
29 | 430 | 0.0674 | -15 | c.*44 others(26): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 3938 | chr4 | TogoVar | |||||||
SPON2_chr4_1161932_1177583 | 1174496 | AAAAAAAC others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02976.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0030 | 1 | 430 | 0.0023 | -15 | c.-19 others(26): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 1914 | chr4 | TogoVar | |||||||
SPOPL_chr2_138496770_138578547 | 138567419 | GTGTGTGT others(8): Show |
G | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 370 | 0.0027 | -15 | c.103 others(34): Show |
SPOPL | ENSG00000144228.9 | transcript | ENST00000280098.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPOP_chr17_49593884_49683097 | 49647313 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0382 | 1 | 211 | 0.0047 | -15 | c.-66 others(34): Show |
SPOP | ENSG00000121067.19 | transcript | ENST00000504102.6 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
SPOUT1_chr9_128814651_128834794 | 128830632 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(183): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(32): Show |
186 | 190 | 0.9789 | -15 | c.-86 others(24): Show |
SPOUT1 | ENSG00000198917.13 | transcript | ENST00000361256.10 | protein_coding | 839 | chr9 | TogoVar | |||||||
SPOUT1_chr9_128814651_128834794 | 128832897 | AAACAACA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(206): Show |
a0001 | a0001c0001a0001c0005a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(37): Show |
209 | 216 | 0.9676 | -15 | c.-31 others(26): Show |
SPOUT1 | ENSG00000198917.13 | transcript | ENST00000361256.10 | protein_coding | 3104 | chr9 | TogoVar | |||||||
SPPL2A_chr15_50697266_50770706 | 50698903 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 36 | 0.0278 | -15 | c.*88 others(26): Show |
SPPL2A | ENSG00000138600.11 | transcript | ENST00000261854.10 | protein_coding | 3362 | chr15 | TogoVar | |||||||
SPPL2A_chr15_50697266_50770706 | 50706389 | CAAAAAAA others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0033 | 1 | 253 | 0.0040 | -15 | c.*13 others(26): Show |
SPPL2A | ENSG00000138600.11 | transcript | ENST00000261854.10 | protein_coding | 15/15 | 1396 | chr15 | TogoVar | ||||||
SPPL3_chr12_120757510_120909358 | 120766635 | GTGTGCCT others(8): Show |
G | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0146 | 1 | 318 | 0.0031 | -15 | c.974 others(30): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120833667 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01169.hp1 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0241 a0001c0001t0003g0309 |
2 | 189 | 0.0106 | -15 | c.24- others(32): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38251692 | AAGAAAAC others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02717.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0215 a0001c0001t0010g0216 a0001c0001t0010g0217 others(1): Show |
4 | 376 | 0.0106 | -15 | c.-14 others(26): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 1143 | chr15 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65317513 | AAACAACA others(8): Show |
A | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0026 | 1 | 84 | 0.0119 | -15 | c.439 others(30): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65317546 | CAACAACA others(8): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG02280.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0047 a0001c0001t0002g0056 a0001c0001t0003g0265 others(3): Show |
6 | 274 | 0.0219 | -15 | c.439 others(30): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65360089 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02559.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 others(16): Show |
20 | 274 | 0.0730 | -15 | c.27- others(32): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRN_chr10_133415666_133429625 | 133416024 | TGTCGGGC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01891.hp1 others(9): Show |
a0002 | a0002c0003 | a0002c0003t0018a0002c0003t0019a0002c0003t0020others(1): Show | a0002c0003t0018g0031 a0002c0003t0018g0061 a0002c0003t0019g0024 others(2): Show |
12 | 467 | 0.0257 | -15 | c.*71 others(26): Show |
SPRN | ENSG00000203772.8 | transcript | ENST00000685335.1 | protein_coding | 4641 | chr10 | TogoVar | |||||||
SPRR2F_chr1_153107121_153118516 | 153118277 | GCAAATTG others(8): Show |
G | upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | -15 | c.-48 others(26): Show |
SPRR2F | ENSG00000244094.2 | transcript | ENST00000468739.2 | protein_coding | 4762 | chr1 | TogoVar | |||||||
SPRR2G_chr1_153144582_153155890 | 153153305 | GAGTAAAT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | -15 | c.-24 others(26): Show |
SPRR2G | ENSG00000159516.9 | transcript | ENST00000368748.5 | protein_coding | 2416 | chr1 | TogoVar | |||||||
SPRTN_chr1_231333293_231360023 | 231359095 | TATATATA others(8): Show |
T | downstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 348 | 0.0029 | -15 | c.*57 others(26): Show |
SPRTN | ENSG00000010072.16 | transcript | ENST00000295050.12 | protein_coding | 4073 | chr1 | TogoVar | |||||||
SPRY3_chrX_155607586_155787459 | 155751924 | GAAATAAA others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG01099.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(20): Show | a0001c0001t0003g0079 a0001c0001t0006g0020 a0001c0001t0006g0034 others(26): Show |
29 | 56 | 0.5179 | -15 | c.-28 others(36): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155767724 | GGAGGAGG others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00621.hp1 others(53): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0026 a0001c0001t0001g0047 a0001c0001t0001g0048 others(53): Show |
56 | 227 | 0.2467 | -15 | c.-28 others(32): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141142821 | TTTTTTTT others(8): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02280.hp2 HG03209.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0025a0002c0004t0045 | a0001c0001t0025g0145 a0001c0001t0025g0147 a0002c0004t0045g0240 |
3 | 252 | 0.0119 | -15 | c.695 others(32): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158617924 | TTTACATA others(8): Show |
T | intron_variant | MODIFIER | NA18949.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0193 | 1 | 368 | 0.0027 | -15 | c.654 others(32): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 46/51 | chr1 | TogoVar |